Varaico: Literature-Extracted Genetic Variants

VDR

1,073 papers

RefSeq Summary

This gene encodes vitamin D3 receptor, which is a member of the nuclear hormone receptor superfamily of ligand-inducible transcription factors. This receptor also functions as a receptor for the secon...

Pfam Domains

zf-C4aa 22–91UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 216–406UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

vitamin D receptor

HGNC Alias Symbols

NR1I1; PPP1R163

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000376.3

p.Q385R

c.1154A>G

Surrounding Variants

3 papers

NM_000376.3

p.Q385K

c.1153C>A

1 paper

NM_000376.3

p.K386Q

c.1156A>C

1 paper

NM_000376.3

p.M383I

c.1149G>T

2 papers

NM_000376.3

p.L387P

c.1160T>C

1 paper

NM_000376.3

p.A388T

c.1162G>A

1 paper

NM_000376.3

p.A388V

c.1163C>T

2 papers

NM_000376.3

p.A388D

c.1163C>A

1 paper

NM_000376.3

p.A388A

c.1164C>G

3 papers

NM_000376.3

p.K382E

c.1144A>G

1 paper

NM_000376.3

p.K382Q

c.1144A>C

1 paper

NM_000376.3

p.A381A

c.1143C>T

2 papers

NM_000376.3

p.A381V

c.1142C>T